CTICasesBirt-Hogg-Dube syndrome
Imaging findings
Chest CT shows a few subpleural/paraseptal pulmonary cysts, and abdominal/pelvic MRI shows a large soft tissue mass in the flank/pelvis which was biopsy-proven to be a soft tissue sarcoma. The patient has a documented folliculin gene mutation.
Key takeaways
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder caused by mutations in the FLCN (folliculin) gene. It classically presents with lung cysts, spontaneous pneumothorax, and renal neoplasms. Due to loss of tumor suppressor function, patients can occasionally present with other malignant neoplasms, including soft tissue sarcomas.
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